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NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000191563.11
Variation ID:
191563
Description:
single nucleotide variant
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NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg)

Allele ID
189251
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q26
Genomic location
4: 113358518 (GRCh38) GRCh38 UCSC
4: 114279674 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_327:g.545436C>A
LRG_327t1:c.9900C>A
NC_000004.11:g.114279674C>A
... more HGVS
Protein change
S3300R
Other names
-
Canonical SPDI
NC_000004.12:113358517:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00998 (A)

Allele frequency
1000 Genomes Project 0.00998
Trans-Omics for Precision Medicine (TOPMed) 0.01828
Exome Aggregation Consortium (ExAC) 0.01883
The Genome Aggregation Database (gnomAD), exomes 0.01916
The Genome Aggregation Database (gnomAD) 0.02112
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02276
Links
ClinGen: CA199902
dbSNP: rs34270799
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Jun 24, 2013 RCV000171795.4
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jan 12, 2018 RCV000625129.3
Benign 1 criteria provided, single submitter Jul 27, 2015 RCV000243731.1
Benign 1 criteria provided, single submitter Dec 8, 2020 RCV000311991.6
Benign 1 criteria provided, single submitter Aug 10, 2020 RCV001283420.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ANK2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1574 1590

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 24, 2013)
criteria provided, single submitter
Method: research
not specified
Allele origin: unknown
Biesecker Lab/Clinical Genomics Section,National Institutes of Health
Study: ClinSeq
Accession: SCV000050803.1
Submitted: (Mar 10, 2015)
Comments (2):
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for … (more)
Medical sequencing
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000306900.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Oct 09, 2014)
criteria provided, single submitter
Method: clinical testing
Cardiac arrhythmia, ankyrin B-related
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743829.1
Submitted: (Apr 17, 2018)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiac arrhythmia, ankyrin B-related
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000447220.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jul 27, 2015)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000318497.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Seen in trans with a mutation or … (more)
Benign
(Aug 10, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001157080.2
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000557180.5
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs34270799...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 12, 2021